Identification of IVS-I (-1) (G > C) or Hb Monroe as a Report on the Beta-globin Gene with a Beta-thalassemia Minor Phenotype in South of Iran

被引：0
作者：
Hamid, Mohammad [1 ,2 ]
Shariati, Gholamreza [2 ,3 ]
Saberi, Alihossein [2 ,3 ]
Kaikhaei, Bijan [2 ]
Galehdari, Hamid [3 ]
Mohammadi-Anaei, Marziye [2 ]
机构：
[1] Pasteur Inst Iran, Dept Mol Med, Biotechnol Res Ctr, Tehran 13164, Iran
[2] Narges Med Genet & PND Lab, Ahvaz, Iran
[3] Ahvaz Jundishapur Univ Med Sci, Fac Med, Dept Med Genet, Ahvaz, Iran
来源：
ARCHIVES OF IRANIAN MEDICINE | 2013年 / 16卷 / 09期
关键词：
Beta-globin gene; Iran; thalassemia (thal); MUTATIONS; VARIANTS;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We described the first report of IVS-I (-1), codon 30 (G > C) or Hb Monroe in five individuals from four unrelated families in Khuzestan Province. Polymerase chain reaction (PCR) followed by sequencing of the beta-globin gene confirmed the presence of Hb Monroe in the heterozygous form which causes beta-thalassemia due to missplicing in,the course of mRNA processing. This mutation has been described in individuals originated from Arabic and Behbahani origins, Ahvaz City, south of Iran. The knowledge of the beta-globin variants present in the Iranian population is essential for the molecular diagnosis and prevention of hemoglobinopathies.
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页码：563 / 564
页数：2
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